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1 OMIM reference -
5 associated genes
5 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
3 signs/symptoms
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa inversa

COL17A1 LAMC2
ITGB4
LAMA3
LAMB3
LAMC2


COMMON
GENES
LAMC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMA3
LAMB3
(0.52)
(0.52)
LAMC2
LAMC2



Citations in the biomedical literature:


Generalized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4 LAMA3 LAMB3 LAMC2
Junctional epidermolysis bullosa inversa



Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa inversa

Synonym(s):
- GABEB
- Generalized atrophic benign epidermolysis bullosa
- JEB-nH gen
- Junctional epidermolysis bullosa generalisata mitis
- Junctional epidermolysis bullosa, Disentis type

Synonym(s):
- EBJ-I
- Inverse JEB
- JEB-I

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Abnormal fingernails
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa inversa

Very frequent
- Nails anomalies

Frequent
- Abnormal toenails

Occasional
- Anomalies of teeth and dentition


Very frequent
- Autosomal recessive inheritance